Dr. Nelson participates in a variety of clinical research focusing on the discovery of underlying molecular mechanism of disease and on the validation of new technologies and assays for implementation in the clinical molecular genetics laboratory.
A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening. Sinclair GB and van Karnebeek CD and Ester M and Boyd F and Nelson T and Stockler-Ipsiroglu S and Vallance H DOI: 10.1016/j.ymgme.2016.05.002 PubMed: 27233226 07/2016
Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features. Tucker T and Steinraths M and Oh T and Nelson TN and Van Allen MI and Brown L and Schlade-Bartusiak K DOI: 10.1097/mcd.0000000000000108 PubMed: 26636500 04/2016
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists. Boycott K and Hartley T and Adam S and Bernier F and Chong K and Fernandez BA and Friedman JM and Geraghty MT and Hume S and Knoppers BM and Laberge AM and Majewski J and Mendoza-Londono R and Meyn MS and Michaud JL and Nelson TN and Richer J and Sadikovic B and Skidmore DL and Stockley T DOI: 10.1136/jmedgenet-2015-103144 PubMed: 25951830 07/2015
Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations. Lerner-Ellis J and Wang M and White S and Lebo MS and Canadian Open Genetics Repository Group DOI: 10.1136/jmedgenet-2014-102933 PubMed: 25904639 07/2015
CCMG statement on gene patents. Richer J and Nelson TN and Evans J and Armstrong L and Lauzon J and McGillivray B DOI: 10.1111/cge.12009 PubMed: 23051176 11/2012
Uniparental disomy: can SNP array data be used for diagnosis? Tucker T and Schlade-Bartusiak K and Eydoux P and Nelson TN and Brown L DOI: 10.1038/gim.2012.35 PubMed: 22538256 04/2012
CCMG statement on direct-to-consumer genetic testing. CCMG Ethics and Public Policy Committee and Nelson TN and Armstrong L and Richer J and Evans J and Lauzon J and McGillivray B and Bruyere H and Dougan S DOI: 10.1111/j.1399-0004.2011.01789.x PubMed: 21943145 01/2012
Use of array genomic hybridization technology in prenatal diagnosis in Canada. Duncan A and Langlois S and SOGC Genetics Committee and CCMG Prenatal Diagnosis Committee PubMed: 22166281 12/2011
Alpha1-antitrypsin deficiency: a clinical-genetic overview. Abboud RT and Nelson TN and Jung B and Mattman A DOI: 10.2147/tacg.s10604 PubMed: 23776367 2011
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. McLarren KW and Severson TM and du Souich C and Stockton DW and Kratz LE and Cunningham D and Hendson G and Morin RD and Wu D and Paul JE and An J and Nelson TN and Chou A and DeBarber AE and Merkens LS and Michaud JL and Waters PJ and Yin J and McGillivray B and Demos M DOI: 10.1016/j.ajhg.2010.11.004 PubMed: 21129721 12/2010
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. du Souich C and Chou A and Yin J and Oh T and Nelson TN and Hurlburt J and Arbour L and Friedlander R and McGillivray BC and Tyshchenko N and Rump A and Poskitt KJ and Demos MK and Van Allen MI and Boerkoel CF DOI: 10.1002/ajmg.a.33071 PubMed: 19842190 11/2009
A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction. Demos MK and Macri V and Farrell K and Nelson TN and Chapman K and Accili E and Armstrong L DOI: 10.1002/mds.22467 PubMed: 19205071 04/2009
Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11. Schrader KA and Nelson TN and De Luca A and Huntsman DG and McGillivray BC DOI: 10.1111/j.1399-0004.2008.01100.x PubMed: 19054014 02/2009
V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity. Huculak C and Bruyere H and Nelson TN and Kozak FK and Langlois S DOI: 10.1002/ajmg.a.31486 PubMed: 17036313 11/2006
Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion. Hewitt J and Ballard JN and Nelson TN and Smith VC and Griffiths TA and Pritchard S and Wu JK and Wadsworth LD and Casey B and MacGillivray RT DOI: 10.1111/j.1365-2141.2004.05296.x PubMed: 15667541 02/2005
Stage-specific expression in Leishmania conferred by 3' untranslated regions of L. major leishmanolysin genes (GP63). Kelly BL and Nelson TN and McMaster WR DOI: 10.1016/s0166-6851(01)00307-3 PubMed: 11463473 08/2001
Human DNA testing could improve outcomes for patients with COVID-19.
That’s the key idea put forth in preliminary research posted this month to bioRxiv that highlights the potential benefits of testing COVID-19 patients for genetic variants of ACE2—the protein identified as the point-of-entry for the SARS-COV-2 virus into human cells.
Congratulations to the BC Children's and BC Women's investigators who were awarded funding through the highly competitive Canadian Institutes of Health Research (CIHR) Project Grant Fall 2019 competition.
A new study suggests that specialized immune cells that dampen inflammation and help repair the gut could be used as a potential therapy for children dealing with the painful symptoms of inflammatory bowel disease.
We believe there’s nothing we can’t do with your support. It can take years to turn scientific breakthrough into new interventions and treatments. Funding helps speed the pace of change. When given the resources, we can bring transformative therapies – and hope – out of the laboratory and into the clinic to save and improve children’s lives.